Mutagenetix > Incidental Mutation

Incidental Mutation 'R2048:Mgam'

222212

Institutional Source

Beutler Lab

Gene Symbol

Mgam

Ensembl Gene

ENSMUSG00000068587

Gene Name

maltase-glucoamylase

Synonyms

6030407P20Rik

MMRRC Submission

040055-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R2048 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40605765-40746057 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40633363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 186 (D186G)

Ref Sequence

ENSEMBL: ENSMUSP00000144652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071535] [ENSMUST00000201148] [ENSMUST00000202636]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071535
AA Change: D223G

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071466
Gene: ENSMUSG00000068587
AA Change: D223G

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
PD	63	111	1.81e-8	SMART
Pfam:NtCtMGAM_N	124	233	6.2e-36	PFAM
Pfam:Glyco_hydro_31	323	795	3.4e-145	PFAM
PD	924	977	4.52e-9	SMART
Pfam:NtCtMGAM_N	988	1101	1.5e-30	PFAM
Blast:ANK	1141	1171	1e-7	BLAST
Pfam:Glyco_hydro_31	1189	1691	2e-139	PFAM
low complexity region	1776	1791	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201148
AA Change: D223G

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143946
Gene: ENSMUSG00000068587
AA Change: D223G

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
low complexity region	47	59	N/A	INTRINSIC
PD	63	111	1.81e-8	SMART
Pfam:NtCtMGAM_N	124	233	6.2e-36	PFAM
Pfam:Glyco_hydro_31	323	795	3.4e-145	PFAM
PD	924	977	4.52e-9	SMART
Pfam:NtCtMGAM_N	988	1101	1.5e-30	PFAM
Blast:ANK	1141	1171	1e-7	BLAST
Pfam:Glyco_hydro_31	1189	1691	2e-139	PFAM
low complexity region	1776	1791	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202636
AA Change: D186G

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144652
Gene: ENSMUSG00000068587
AA Change: D186G

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:Trefoil	28	70	3.6e-12	PFAM
Pfam:NtCtMGAM_N	87	196	1.4e-36	PFAM

Meta Mutation Damage Score

0.4134

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display abnormalities in starch digestion and prandial glucose homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,647,357 (GRCm39)	D19G	possibly damaging	Het
Adhfe1	A	G	1: 9,633,778 (GRCm39)	K342R	probably benign	Het
Adk	A	G	14: 21,368,244 (GRCm39)	N223S	probably damaging	Het
Aff4	A	G	11: 53,289,212 (GRCm39)	S454G	probably benign	Het
Ahnak	T	A	19: 8,984,420 (GRCm39)	N1901K	probably damaging	Het
Camsap1	T	C	2: 25,819,755 (GRCm39)	T1578A	probably benign	Het
Ccdc63	A	C	5: 122,268,350 (GRCm39)		probably null	Het
Ceacam1	G	T	7: 25,176,113 (GRCm39)	S27Y	probably benign	Het
Cit	T	C	5: 116,024,872 (GRCm39)		probably null	Het
Cntn4	A	G	6: 106,414,825 (GRCm39)		probably benign	Het
Cyp2d26	A	G	15: 82,676,928 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,908,237 (GRCm39)	V204E	probably damaging	Het
Cyp51	G	A	5: 4,136,636 (GRCm39)		probably benign	Het
Dipk1a	T	C	5: 108,057,886 (GRCm39)	D179G	probably damaging	Het
Epb41l4b	T	G	4: 57,142,866 (GRCm39)	E96D	probably benign	Het
Epg5	A	G	18: 78,067,202 (GRCm39)	E2221G	probably damaging	Het
Fbxo21	T	A	5: 118,146,169 (GRCm39)	N597K	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fsip1	C	A	2: 118,072,197 (GRCm39)	E195D	probably damaging	Het
Gm10152	T	C	7: 144,317,049 (GRCm39)	F35L	unknown	Het
Gtpbp6	A	C	5: 110,254,931 (GRCm39)	V87G	probably damaging	Het
Hal	A	G	10: 93,327,002 (GRCm39)	T176A	probably damaging	Het
Il12rb2	G	T	6: 67,337,529 (GRCm39)	N117K	probably benign	Het
Kalrn	A	G	16: 34,072,680 (GRCm39)	V734A	probably benign	Het
Klf7	A	G	1: 64,117,913 (GRCm39)	V228A	possibly damaging	Het
Kng1	A	G	16: 22,877,354 (GRCm39)	Y54C	probably damaging	Het
Lpcat2	T	G	8: 93,596,471 (GRCm39)	N169K	possibly damaging	Het
Magohb	A	T	6: 131,266,385 (GRCm39)	S40R	probably damaging	Het
Mycbp2	A	G	14: 103,469,960 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,975,928 (GRCm39)	D1332G	probably damaging	Het
Myh9	G	A	15: 77,655,332 (GRCm39)	T1208M	possibly damaging	Het
Ncor2	C	T	5: 125,161,996 (GRCm39)	R426H	unknown	Het
Nradd	T	C	9: 110,450,697 (GRCm39)	E160G	probably benign	Het
Or10u4	G	A	10: 129,801,861 (GRCm39)	S230L	probably damaging	Het
Or2a54	T	A	6: 43,093,312 (GRCm39)	M212K	probably benign	Het
Otog	A	T	7: 45,937,063 (GRCm39)	T1591S	probably damaging	Het
Oxsr1	A	G	9: 119,076,140 (GRCm39)	S389P	probably benign	Het
Pde3a	A	G	6: 141,434,732 (GRCm39)		probably benign	Het
Pi4k2b	A	T	5: 52,905,773 (GRCm39)	I105L	probably benign	Het
Pilrb1	T	C	5: 137,853,153 (GRCm39)	R217G	possibly damaging	Het
Poteg	A	T	8: 27,946,774 (GRCm39)	I159L	probably benign	Het
Ppargc1a	A	G	5: 51,705,858 (GRCm39)	F75S	probably damaging	Het
Ptk2b	T	G	14: 66,409,954 (GRCm39)	D466A	probably benign	Het
Ptpn21	A	G	12: 98,655,785 (GRCm39)	V394A	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shisa3	G	A	5: 67,768,651 (GRCm39)	E184K	possibly damaging	Het
Slc4a2	A	G	5: 24,636,557 (GRCm39)	H283R	probably damaging	Het
Slc9a3	A	G	13: 74,311,860 (GRCm39)	S603G	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tbcd	G	T	11: 121,431,762 (GRCm39)	C470F	probably damaging	Het
Thsd1	A	G	8: 22,749,333 (GRCm39)	R674G	probably benign	Het
Zbtb11	T	A	16: 55,818,372 (GRCm39)	C599S	probably damaging	Het
Zfp541	A	G	7: 15,812,252 (GRCm39)	R302G	possibly damaging	Het

Other mutations in Mgam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Mgam	APN	6	40,619,944 (GRCm39)	missense	probably benign
IGL01065:Mgam	APN	6	40,639,644 (GRCm39)	critical splice donor site	probably null
IGL01402:Mgam	APN	6	40,621,879 (GRCm39)	missense	probably benign	0.01
IGL01404:Mgam	APN	6	40,621,879 (GRCm39)	missense	probably benign	0.01
IGL01413:Mgam	APN	6	40,638,211 (GRCm39)	missense	probably damaging	1.00
IGL01546:Mgam	APN	6	40,631,627 (GRCm39)	missense	probably damaging	0.98
IGL01596:Mgam	APN	6	40,635,204 (GRCm39)	missense	probably damaging	1.00
IGL02133:Mgam	APN	6	40,620,010 (GRCm39)	missense	probably damaging	0.98
IGL02734:Mgam	APN	6	40,639,628 (GRCm39)	missense	probably damaging	1.00
BB002:Mgam	UTSW	6	40,735,985 (GRCm39)	missense	probably damaging	0.99
BB012:Mgam	UTSW	6	40,735,985 (GRCm39)	missense	probably damaging	0.99
R0012:Mgam	UTSW	6	40,742,190 (GRCm39)	splice site	probably null
R0116:Mgam	UTSW	6	40,635,921 (GRCm39)	missense	probably damaging	1.00
R0310:Mgam	UTSW	6	40,737,969 (GRCm39)	splice site	probably benign
R0452:Mgam	UTSW	6	40,736,024 (GRCm39)	missense	probably damaging	1.00
R0497:Mgam	UTSW	6	40,641,826 (GRCm39)	missense	probably damaging	1.00
R0699:Mgam	UTSW	6	40,619,953 (GRCm39)	missense	possibly damaging	0.84
R0738:Mgam	UTSW	6	40,731,869 (GRCm39)	missense	probably benign	0.01
R1033:Mgam	UTSW	6	40,657,558 (GRCm39)	missense	probably benign	0.07
R1403:Mgam	UTSW	6	40,643,815 (GRCm39)	missense	possibly damaging	0.93
R1403:Mgam	UTSW	6	40,643,815 (GRCm39)	missense	possibly damaging	0.93
R1430:Mgam	UTSW	6	40,733,305 (GRCm39)	missense	probably benign	0.08
R1432:Mgam	UTSW	6	40,733,301 (GRCm39)	missense	probably damaging	1.00
R1443:Mgam	UTSW	6	40,736,714 (GRCm39)	nonsense	probably null
R1470:Mgam	UTSW	6	40,736,062 (GRCm39)	missense	probably damaging	1.00
R1470:Mgam	UTSW	6	40,736,062 (GRCm39)	missense	probably damaging	1.00
R1519:Mgam	UTSW	6	40,638,617 (GRCm39)	missense	probably benign	0.45
R1654:Mgam	UTSW	6	40,734,421 (GRCm39)	missense	probably damaging	1.00
R1667:Mgam	UTSW	6	40,653,978 (GRCm39)	missense	possibly damaging	0.62
R1730:Mgam	UTSW	6	40,641,794 (GRCm39)	missense	possibly damaging	0.92
R1781:Mgam	UTSW	6	40,646,797 (GRCm39)	missense	probably damaging	1.00
R1783:Mgam	UTSW	6	40,641,794 (GRCm39)	missense	possibly damaging	0.92
R1829:Mgam	UTSW	6	40,643,826 (GRCm39)	missense	probably damaging	1.00
R1833:Mgam	UTSW	6	40,631,652 (GRCm39)	critical splice donor site	probably null
R1872:Mgam	UTSW	6	40,638,234 (GRCm39)	nonsense	probably null
R1912:Mgam	UTSW	6	40,741,119 (GRCm39)	nonsense	probably null
R1977:Mgam	UTSW	6	40,641,814 (GRCm39)	missense	probably benign	0.01
R2086:Mgam	UTSW	6	40,737,962 (GRCm39)	splice site	probably null
R2138:Mgam	UTSW	6	40,733,384 (GRCm39)	missense	probably damaging	1.00
R2224:Mgam	UTSW	6	40,741,208 (GRCm39)	splice site	probably null
R2408:Mgam	UTSW	6	40,663,456 (GRCm39)	missense	probably damaging	1.00
R2508:Mgam	UTSW	6	40,736,717 (GRCm39)	missense	probably damaging	1.00
R2842:Mgam	UTSW	6	40,638,279 (GRCm39)	missense	probably benign	0.01
R2847:Mgam	UTSW	6	40,629,649 (GRCm39)	missense	possibly damaging	0.67
R2848:Mgam	UTSW	6	40,629,649 (GRCm39)	missense	possibly damaging	0.67
R2965:Mgam	UTSW	6	40,745,154 (GRCm39)	missense	possibly damaging	0.46
R2966:Mgam	UTSW	6	40,745,154 (GRCm39)	missense	possibly damaging	0.46
R3035:Mgam	UTSW	6	40,640,464 (GRCm39)	missense	probably benign
R3895:Mgam	UTSW	6	40,736,054 (GRCm39)	missense	probably damaging	1.00
R4027:Mgam	UTSW	6	40,731,836 (GRCm39)	missense	probably damaging	1.00
R4030:Mgam	UTSW	6	40,731,836 (GRCm39)	missense	probably damaging	1.00
R4302:Mgam	UTSW	6	40,740,019 (GRCm39)	missense	probably benign	0.02
R4707:Mgam	UTSW	6	40,691,566 (GRCm39)	splice site	probably null
R4826:Mgam	UTSW	6	40,657,582 (GRCm39)	missense	possibly damaging	0.52
R4898:Mgam	UTSW	6	40,619,988 (GRCm39)	missense	probably benign
R5438:Mgam	UTSW	6	40,661,455 (GRCm39)	missense	probably damaging	1.00
R5492:Mgam	UTSW	6	40,733,297 (GRCm39)	missense	probably damaging	1.00
R5770:Mgam	UTSW	6	40,646,738 (GRCm39)	missense	probably benign	0.01
R5839:Mgam	UTSW	6	40,716,998 (GRCm39)	missense	possibly damaging	0.90
R5845:Mgam	UTSW	6	40,652,257 (GRCm39)	missense	possibly damaging	0.78
R5847:Mgam	UTSW	6	40,660,989 (GRCm39)	missense	probably benign	0.42
R5891:Mgam	UTSW	6	40,721,282 (GRCm39)	missense	probably benign
R6158:Mgam	UTSW	6	40,734,648 (GRCm39)	missense	probably damaging	1.00
R6193:Mgam	UTSW	6	40,724,854 (GRCm39)	nonsense	probably null
R6423:Mgam	UTSW	6	40,653,979 (GRCm39)	missense	possibly damaging	0.84
R6706:Mgam	UTSW	6	40,721,720 (GRCm39)	missense	probably benign	0.00
R6813:Mgam	UTSW	6	40,727,099 (GRCm39)	missense	probably damaging	0.99
R6863:Mgam	UTSW	6	40,705,943 (GRCm39)	missense	probably benign	0.00
R6906:Mgam	UTSW	6	40,724,853 (GRCm39)	missense	probably damaging	1.00
R7091:Mgam	UTSW	6	40,745,210 (GRCm39)	missense	possibly damaging	0.95
R7099:Mgam	UTSW	6	40,638,650 (GRCm39)	missense	probably benign	0.09
R7282:Mgam	UTSW	6	40,740,045 (GRCm39)	missense	probably benign
R7282:Mgam	UTSW	6	40,633,446 (GRCm39)	missense	possibly damaging	0.71
R7354:Mgam	UTSW	6	40,721,732 (GRCm39)	missense	probably damaging	1.00
R7374:Mgam	UTSW	6	40,734,373 (GRCm39)	missense	possibly damaging	0.89
R7399:Mgam	UTSW	6	40,643,788 (GRCm39)	missense	probably damaging	0.99
R7406:Mgam	UTSW	6	40,640,459 (GRCm39)	missense	probably benign	0.13
R7446:Mgam	UTSW	6	40,723,266 (GRCm39)	missense	probably damaging	1.00
R7466:Mgam	UTSW	6	40,721,723 (GRCm39)	missense	probably benign	0.00
R7525:Mgam	UTSW	6	40,742,954 (GRCm39)	missense	probably benign	0.01
R7530:Mgam	UTSW	6	40,686,152 (GRCm39)	splice site	probably null
R7570:Mgam	UTSW	6	40,723,367 (GRCm39)	missense	probably benign	0.16
R7669:Mgam	UTSW	6	40,635,944 (GRCm39)	missense	probably benign	0.00
R7679:Mgam	UTSW	6	40,619,980 (GRCm39)	missense	probably damaging	0.98
R7746:Mgam	UTSW	6	40,645,127 (GRCm39)	missense	probably damaging	0.99
R7859:Mgam	UTSW	6	40,717,113 (GRCm39)	missense	possibly damaging	0.75
R7925:Mgam	UTSW	6	40,735,985 (GRCm39)	missense	probably damaging	0.99
R8206:Mgam	UTSW	6	40,657,169 (GRCm39)	missense	probably benign	0.00
R8244:Mgam	UTSW	6	40,727,520 (GRCm39)	missense	probably damaging	1.00
R8309:Mgam	UTSW	6	40,722,111 (GRCm39)	missense	possibly damaging	0.88
R8472:Mgam	UTSW	6	40,671,460 (GRCm39)	splice site	probably null
R8758:Mgam	UTSW	6	40,705,977 (GRCm39)	missense	probably benign	0.41
R8777:Mgam	UTSW	6	40,632,185 (GRCm39)	missense	probably damaging	0.97
R8777-TAIL:Mgam	UTSW	6	40,632,185 (GRCm39)	missense	probably damaging	0.97
R8783:Mgam	UTSW	6	40,633,423 (GRCm39)	missense	probably damaging	0.99
R8939:Mgam	UTSW	6	40,740,137 (GRCm39)	critical splice donor site	probably null
R8968:Mgam	UTSW	6	40,734,745 (GRCm39)	critical splice acceptor site	probably null
R8987:Mgam	UTSW	6	40,706,570 (GRCm39)	missense	probably damaging	1.00
R9055:Mgam	UTSW	6	40,691,663 (GRCm39)	intron	probably benign
R9171:Mgam	UTSW	6	40,745,146 (GRCm39)	missense	possibly damaging	0.76
R9252:Mgam	UTSW	6	40,706,577 (GRCm39)	missense	probably damaging	0.99
R9258:Mgam	UTSW	6	40,657,121 (GRCm39)	missense	probably benign
R9262:Mgam	UTSW	6	40,723,422 (GRCm39)	critical splice donor site	probably null
R9287:Mgam	UTSW	6	40,705,905 (GRCm39)	intron	probably benign
R9521:Mgam	UTSW	6	40,722,118 (GRCm39)	missense	probably damaging	1.00
R9589:Mgam	UTSW	6	40,727,519 (GRCm39)	missense	probably damaging	1.00
R9658:Mgam	UTSW	6	40,721,311 (GRCm39)	missense	possibly damaging	0.93
R9784:Mgam	UTSW	6	40,736,024 (GRCm39)	missense	probably damaging	1.00
RF011:Mgam	UTSW	6	40,734,370 (GRCm39)	missense	probably damaging	1.00
RF020:Mgam	UTSW	6	40,662,243 (GRCm39)	missense	probably damaging	1.00
RF023:Mgam	UTSW	6	40,657,642 (GRCm39)	missense	probably benign
X0021:Mgam	UTSW	6	40,635,981 (GRCm39)	missense	probably damaging	1.00
Z1088:Mgam	UTSW	6	40,619,994 (GRCm39)	missense	probably benign	0.01
Z1176:Mgam	UTSW	6	40,706,000 (GRCm39)	missense	probably damaging	1.00
Z1176:Mgam	UTSW	6	40,654,578 (GRCm39)	critical splice donor site	probably null
Z1177:Mgam	UTSW	6	40,717,005 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACTTGAATACAGTGCTCTGG -3'
(R):5'- CCCTCAAGATTAGAGGAAAGAAGCC -3'

Sequencing Primer
(F):5'- TGTACCACAGTGAGATACCTGGC -3'
(R):5'- CTGAAAGCTTACCTCATTCGGGG -3'

Posted On

2014-08-25